HGVS | Genome Assembly |
---|---|
NC_000023.11:g.37803879G>T , CM000685.2:g.37803879G>T | GRCh38 |
NC_000023.10:g.37663132G>T , CM000685.1:g.37663132G>T | GRCh37 |
NC_000023.9:g.37548076G>T | NCBI36 |
NG_009065.1:g.28863G>T , LRG_53:g.28863G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696170.1:c.*409G>T | ENSP00000512461.1:n.*409G>T | |
ENST00000696171.1:c.804G>T | ENSP00000512462.1:p.Val268= | |
ENST00000378588.5:c.900G>T MANE Select | ENSP00000367851.4:p.Val300= | |
ENST00000378588.4:c.900G>T | ENSP00000367851.4:p.Val300= | |
ENST00000465127.1:c.171+377879G>T | ENSP00000417050.1:n.171+377879G>T | |
ENST00000492288.1:n.325G>T | ||
NM_000397.3:c.900G>T , LRG_53t1:c.900G>T | NP_000388.2:p.Val300= | |
XM_011543890.1:c.594G>T | XP_011542192.1:p.Val198= | |
NM_000397.4:c.900G>T MANE Select | NP_000388.2:p.Val300= |